This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SHROOM4:c.266G>A, p.Arg89Lys

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
50438789	50695789

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.266G>A

PROTEIN CHANGE

p.Arg89Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0011	0.0	0.0	0.0013	0.0	0.0042

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002135	0.000228	0.001021	0.00923	7.223e-05	0.0	0.001555	0.004638	0.007445

ESP
AA	EA
0.0002608	0.002081

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.789446	Polymorphism

DBSNP ID

1 combination linked to SHROOM4:c.266G>A, p.Arg89Lys

1 disease linked to SHROOM4:c.266G>A, p.Arg89Lys

Craniorachischisis

Found any issues with the data on this page? Report this entry.